Search results for "Dysfunction"

showing 10 items of 1129 documents

Nuclear inclusions of pathogenic ataxin-1 induce oxidative stress and perturb the protein synthesis machinery

2020

Spinocerebellar ataxia type-1 (SCA1) is caused by an abnormally expanded polyglutamine (polyQ) tract in ataxin-1. These expansions are responsible for protein misfolding and self-assembly into intranuclear inclusion bodies (IIBs) that are somehow linked to neuronal death. However, owing to lack of a suitable cellular model, the downstream consequences of IIB formation are yet to be resolved. Here, we describe a nuclear protein aggregation model of pathogenic human ataxin-1 and characterize IIB effects. Using an inducible Sleeping Beauty transposon system, we overexpressed the ATXN1(Q82) gene in human mesenchymal stem cells that are resistant to the early cytotoxic effects caused by the expr…

0301 basic medicineSCA1 Spinocerebellar ataxia type-1Intranuclear Inclusion BodiesClinical BiochemistryMSC mesenchymal stem cellProtein aggregationBiochemistry0302 clinical medicineMutant proteinProtein biosynthesisDE differentially expressed genesNuclear proteinlcsh:QH301-705.5FTIR Fourier-transform infrared spectroscopyAtaxin-1lcsh:R5-920biologyChemistryNuclear ProteinspolyQ polyglutamineRibosomeCell biologySB Sleeping BeautyRibosome ; Polyglutamine ; Ataxin-1 ; Oxidative stress ; Transposon ; Sleeping beauty transposon ; Protein networkSpinocerebellar ataxiaProtein foldingCellular modelFunction and Dysfunction of the Nervous Systemlcsh:Medicine (General)Research PaperiPSC induced pluripotent stem cellAtaxin 1Nerve Tissue ProteinsPPI protein-protein interaction03 medical and health sciencesROS reactive oxygen speciesProtein networkSleeping beauty transposonGSEA Gene Set Enrichment AnalysismedicineHumansNPC neural progenitor cellOrganic Chemistrymedicine.diseaseAFM atomic force microscopyOxidative Stress030104 developmental biologylcsh:Biology (General)IIBs intranuclear inclusion bodiesMS mass spectrometryCardiovascular and Metabolic Diseasesbiology.proteinPolyglutamine030217 neurology & neurosurgery
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Vascular ageing and endothelial cell senescence: Molecular mechanisms of physiology and diseases

2016

Ageing leads to a progressive deterioration of structure and function of all organs over the time. During this process endothelial cells undergo senescence and manifest significant changes in their properties, resulting in impairment of the vascular functionality and neo-angiogenic capability. This ageing-dependent impairment of endothelial functions is considered a key factor contributing to vascular dysfunctions, which is responsible of several age-related diseases of the vascular system and other organs. Several mechanisms have been described to control ageing-related endothelial cell senescence including microRNAs, mitochondrial dysfunction and micro environmental stressors, such as hyp…

0301 basic medicineSenescenceAgingEndotheliump73Biologymedicine.disease_cause03 medical and health sciencesEndotheliocyte; Endothelium; Hypoxia; MicroRNAs; Mitochondrial dysfunction; Oxidative stress; P53 family; P73; Transglutaminase 2; VEGF; Aging; Developmental BiologymicroRNAmedicineAnimalsHumansSettore MED/05 - Patologia ClinicaEndotheliocyte; Endothelium; Hypoxia; Mitochondrial dysfunction; Oxidative stress; Transglutaminase 2; VEGF; microRNAs; p53 family; p73Vascular DiseasesEndotheliumHypoxiaCellular SenescenceEndothelial CellsMicroRNASettore MED/23 - Chirurgia CardiacaBECN1Hypoxia (medical)VEGFMitochondriamicroRNAsEndothelial stem cellTransglutaminase 2030104 developmental biologymedicine.anatomical_structureOxidative stressAgeingImmunologyOxidative stremedicine.symptomMitochondrial dysfunctionp53 familyEndotheliocyteNeuroscienceOxidative stressDevelopmental BiologyMechanisms of Ageing and Development
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Mediterranean nutraceutical foods: Strategy to improve vascular ageing.

2015

Ageing is characterized by a decline in all systemic functions. A greater susceptibility to apoptosis and senescence may contribute to proliferative and functional impairment of endothelial progenitor cells. They play an important role in neo-angiogenesis and endothelial repair. Vascular ageing is associated with changes in the structure and functions of vessels' wall. There are many possible causes of this damage. For sure, inflammation and oxidative stress play a fundamental role in the pathogenesis of endothelial dysfunction, commonly attributed to a reduced availability of nitric oxide. Inflammageing, the chronic low-grade inflammation that characterizes elderly people, aggravates vascu…

0301 basic medicineSenescencePathologymedicine.medical_specialtyAgingInflammationDisease030204 cardiovascular system & hematologyBioinformaticsmedicine.disease_causeDiet MediterraneanEndothelial progenitor cellPathogenesis03 medical and health sciences0302 clinical medicineNutraceuticalmedicineHumansVascular DiseasesEndothelial dysfunctionEndothelial Progenitor CellsSettore MED/04 - Patologia Generalebusiness.industryVascular ageingmedicine.diseaseInflammageing030104 developmental biologyAgeingNutraceuticalEndothelium Vascularmedicine.symptombusinessOxidative stressDevelopmental BiologyMechanisms of ageing and development
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Multiple organ failure as onset of Mediterranean spotted fever: a review based on a case

2016

Mediterranean spotted fever (MSF) is an infectious disease endemic in the southern regions of Italy, with an incidence of about 400 cases/year. The bacteria responsible of the disease is <em>Rickettsia conorii</em>, transmitted to humans by <em>Rhipicephalus sanguineus</em>, the common dog tick. The infection usually manifests with a characteristic symptomatologic triad: fever, exanthema and the so called <em>tache noire</em>, which is the typical eschar at the site of the tick bite. Immunoglobulin M (IgM) and IgG enzymelinked immunosorbent assay and the gold standard micro-immunofluorescent assay, allow serological diagnosis. We report the case of a man …

0301 basic medicineSettore MED/09 - Medicina InternaRhipicephalus sanguineus030106 microbiologylcsh:MedicineEscharTickSerology03 medical and health sciencesMedicinemultiple organ failure.multiple organ dysfunction syndromebiologybusiness.industrylcsh:RMediterranean spotted feverGeneral Medicinebiology.organism_classificationMultiple organ failureVirologySpotted feverRickettsia conoriiImmunoglobulin MInfectious disease (medical specialty)biology.proteinmedicine.symptombusinessRickettsia conoriiItalian Journal of Medicine
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Transient postnatal over nutrition induces long-term alterations in cardiac NLRP3-inflammasome pathway.

2018

International audience; Background and aims: The prevalence of obesity is increasing worldwide at an alarming rate. Altered early nutrition, in particular postnatal overfeeding (PNOF), is a risk factor for impaired cardiac function in adulthood. In the understanding of the initiation or progression of heart diseases, NLRP3 inflammasome and non-coding RNAs have been proposed as key players. In this context, the aim of this study was to decipher the role of NLRP3 inflammasome and its post transcriptional control by micro-RNAs in the regulation of cardiac metabolic function induced by PNOF in mice. Methods and results: Based on a model of mice exposed to PNOF through litter size reduction, we …

0301 basic medicineTime FactorsLitter SizeInflammasomesEndocrinology Diabetes and Metabolismmedicine.medical_treatmentMedicine (miscellaneous)InflammasomeOvernutritionInsulinNutrition and Dieteticsintegumentary systembiologyInflammasomeMicro-RNAsTransfection[SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemAnimal Nutritional Physiological PhenomenaSignal transductionCardiology and Cardiovascular Medicinemedicine.drugSignal TransductionCardiac function curvemedicine.medical_specialtyHeart DiseasesCardiac dysfunctionsNutritional StatusContext (language use)Cell LineProto-Oncogene Protein c-ets-103 medical and health sciences[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemInternal medicineNLR Family Pyrin Domain-Containing 3 ProteinmedicineAnimalsPost-transcriptional regulationNutritionbusiness.industryInsulinMyocardiumRatsMice Inbred C57BLInsulin receptorDisease Models AnimalMicroRNAs030104 developmental biologyEndocrinologyAnimals Newbornbiology.proteinbusinessNutrition, metabolism, and cardiovascular diseases : NMCD
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Human-based evidence for the therapeutic potential of arginase inhibitors in cardiovascular diseases

2020

Arginase is a ubiquitous enzyme that regulates polyamine- and nitric-oxide-requiring vascular functions. It is well-established that, in mammals, arginase overactivation contributes to endothelial dysfunction, a hallmark of cardiovascular diseases. The pharmacological potential of arginase inhibition for improving vascular function is largely supported by a wide range of data from animal studies. However, caution is required before extrapolating animal data to humans because interspecies differences in arginase expression and localization have been observed. For this reason, this review presents the existing arguments from human data in favor of a role of arginase in cardiovascular diseases…

0301 basic medicine[SDV]Life Sciences [q-bio]Bioinformatics03 medical and health sciencesAnimal dataVASCULAR FUNCTIONS0302 clinical medicineDrug DiscoverymedicineHumansEnzyme InhibitorsEndothelial dysfunctionComputingMilieux_MISCELLANEOUSPharmacologyArginasebusiness.industrymedicine.disease3. Good healthArginase030104 developmental biologyCardiovascular Diseases030220 oncology & carcinogenesisEndothelium VascularAnimal studiesVascular functionbusinessDrug Discovery Today
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Antioxidant Alternatives in the Treatment of Amyotrophic Lateral Sclerosis: A Comprehensive Review

2020

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that produces a selective loss of the motor neurons of the spinal cord, brain stem and motor cortex. Oxidative stress (OS) associated with mitochondrial dysfunction and the deterioration of the electron transport chain has been shown to be a factor that contributes to neurodegeneration and plays a potential role in the pathogenesis of ALS. The regions of the central nervous system affected have high levels of reactive oxygen species (ROS) and reduced antioxidant defences. Scientific studies propose treatment with antioxidants to combat the characteristic OS and the regeneration of nicotinamide adenine dinucleotide (NAD+) lev…

0301 basic medicineamyotrophic lateral sclerosispterostilbenePterostilbenePhysiologyCentral nervous systemReviewPharmacologyNicotinamide adenine dinucleotidemedicine.disease_causelcsh:Physiology03 medical and health scienceschemistry.chemical_compound0302 clinical medicinePhysiology (medical)mitochondrial dysfunctionmedicineoxidative stressneurodegenerative diseasesAmyotrophic lateral sclerosisnicotinamide ribosidelcsh:QP1-981business.industryNeurodegenerationmedicine.disease030104 developmental biologymedicine.anatomical_structurechemistryNicotinamide ribosideNAD+ kinasebusiness030217 neurology & neurosurgeryOxidative stressFrontiers in Physiology
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Liraglutide Ameliorates Erectile Dysfunction via Regulating Oxidative Stress, the RhoA/ROCK Pathway and Autophagy in Diabetes Mellitus

2020

Background Erectile dysfunction (ED) occurs more frequently and causes a worse response to the first-line therapies in diabetics compared with nondiabetic men. Corpus cavernosum vascular dysfunction plays a pivotal role in the occurrence of diabetes mellitus ED (DMED). The aim of this study was to investigate the protective effects of glucagon-like peptide-1 (GLP-1) analog liraglutide on ED and explore the underlying mechanisms in vivo and in vitro. Methods Type 1 diabetes was induced in rats by streptozotocin, and the apomorphine test was for screening the DMED model in diabetic rats. Then they were randomly treated with subcutaneous injections of liraglutide (0.3 mg/kg/12 h) for 4 weeks. …

0301 basic medicineautophagyRHOAerectile dysfunctionPharmacologymedicine.disease_cause03 medical and health sciences0302 clinical medicineDiabetes mellitusmedicineoxidative stressPharmacology (medical)PharmacologyliraglutideType 1 diabetesbiologybusiness.industryLiraglutidelcsh:RM1-950Autophagymedicine.diseaseStreptozotocinlcsh:Therapeutics. Pharmacology030104 developmental biologyErectile dysfunction030220 oncology & carcinogenesisdiabetes mellitusbiology.proteinbusinessOxidative stressmedicine.drugFrontiers in Pharmacology
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Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

2020

The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. The onset of NBIA disorders ranges from infancy to adulthood. Main clinical signs are related to extrapyramidal features (dystonia, parkinsonism and choreoathetosis), and neuropsychiatric abnormalities. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17. Nonetheless, many patients remain without a conclusive genetic diagnosis, which shows that there must be additional as yet undiscovered NBIA gen…

0301 basic medicineautophagybrain iron accumulationPhysiologyNeurodegeneration with brain iron accumulationClinical BiochemistryChoreoathetosisrare diseaseReviewmedicine.disease_causeBiochemistryneuroinflammation03 medical and health sciences0302 clinical medicineWDR45lipid metabolismmitochondrial dysfunctionMedicineoxidative stressiron metabolismMolecular BiologyNeuroinflammationDystoniabusiness.industryParkinsonismlcsh:RM1-950Cell Biologymedicine.diseasePANK2030104 developmental biologylcsh:Therapeutics. Pharmacologymembrane remodellingmedicine.symptombusinessneurodegenerative disorderNeuroscience030217 neurology & neurosurgeryOxidative stressAntioxidants
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The AMP-Activated Protein Kinase Plays a Role in Antioxidant Defense and Regulation of Vascular Inflammation

2020

Cardiovascular diseases represent the leading cause of global deaths and life years spent with a severe disability. Endothelial dysfunction and vascular oxidative stress are early precursors of atherosclerotic processes in the vascular wall, all of which are hallmarks in the development of cardiovascular diseases and predictors of future cardiovascular events. There is growing evidence that inflammatory processes represent a major trigger for endothelial dysfunction, vascular oxidative stress and atherosclerosis and clinical data identified inflammation as a cardiovascular risk factor on its own. AMP-activated protein kinase (AMPK) is a central enzyme of cellular energy balance and metaboli…

0301 basic medicinehypertensionEndotheliumPhysiologyClinical BiochemistryInflammationContext (language use)ReviewPharmacologymedicine.disease_causeBiochemistryendothelial dysfunction03 medical and health sciences0302 clinical medicineAMP-activated protein kinasevascular inflammationoxidative stressMedicineEndothelial dysfunctionProtein kinase AMolecular BiologyAMP-activated protein kinasebiologybusiness.industrylcsh:RM1-950AMPKCell Biologymedicine.diseaselcsh:Therapeutics. Pharmacology030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisbiology.proteinmedicine.symptombusinessOxidative stressAntioxidants
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